NM_000527.5(LDLR):c.678T>C (p.Ser226=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 15, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001483069.7
Allele description [Variation Report for NM_000527.5(LDLR):c.678T>C (p.Ser226=)]
NM_000527.5(LDLR):c.678T>C (p.Ser226=)
Condition(s)
-
Rattus norvegicus endothelin converting enzyme 1 (Ece1), mRNA
Rattus norvegicus endothelin converting enzyme 1 (Ece1), mRNAgi|148747183|ref|NM_053596.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024